Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings

Galvão, Antonio Cézar Ribeiro; Machado-Porto, Gislaine Cristina Lopes; Porto, Fábio Henrique de Gobbi; Lucato, Leandro Tavares; Nitrini, Ricardo

doi:10.1590/s1980-57642012dn06040015

Cited by 6 publications

(5 citation statements)

References 23 publications

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“…49,50 Inflammation in ALD may be associated with autoantibodies. Increased CSF IgG synthesis and a CSF oligoclonal banding pattern are found in most adult patients with inflammatory cerALD, [8][9][10]32,51 but the prevalence of these findings in childhood cerALD appears low. 52 In our patient, brain MRI showed bilateral parieto-occipital, confluent, and symmetrical demyelination with ring enhancement at the periphery.…”

Section: Discussionmentioning

confidence: 99%

“…30 Adults with psychiatric disturbances mimicking schizophrenia or psychosis may also be at risk of developing the inflammatory form of cerALD. 31,32 MRI with contrast in inflammatory cerALD reveals leakage of the BBB and infiltration of mononuclear cells, predominantly macrophages. The process of inflammatory demyelination starts most often in the midline of the corpus callosum and spreads outward into the periventricular white matter.…”

Section: Discussionmentioning

confidence: 99%

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2021

Journal of Pediatric Neurology

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X-linked adrenoleukodystrophy (ALD) is a leukodystrophy characterized not only by progressive loss of myelin in the central nervous system due to dysmyelination, but also by acute, subacute, or chronic inflammatory demyelination. This results in the phenotypic variability of cerebral ALD (cerALD), which is independent of the genotype. In this article, we reported a fulminant presentation with fluctuating encephalopathy and visual loss in a patient with childhood onset cerALD. Brain MRI showed symmetric confluent occipito-temporal demyelination with severe disruption of the blood-brain barrier and prechiasmal optic neuropathy. The patient's cerebral spinal fluid (CSF) demonstrated an elevated IgG index, myelin basic proteins, and oligoclonal bands. Within 48 hours of receiving immunomodulating therapy, the patient's symptoms of psychomotor slowing, visual impairment, and areflexia partially resolved. High plasma C26:0 levels and high ratios of C24/22 and C26/22 were diagnostic of ALD. It has been shown that environmental factors play an important role in the inflammatory demyelination responsible for the severe phenotypes of cerALD.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Untitled

2021

Journal of Pediatric Neurology

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“…Adult-onset cerebral X-ALD is rare and accounts for 3–5% of total cases ( 38 ). Initial presentation of adult cerebral X-ALD is usually one of non-specific psychiatric and behavioral symptoms such as personality changes, schizophrenia, and bipolar-like disorder, and these manifestations usually antedate the gait disturbances by several years ( 39 , 40 ). Neurologic manifestations apart from the neuropsychiatric manifestations include progressive spasticity, cerebellar ataxia, cognitive decline, vision changes, seizures, bladder and bowel incontinence, and neuropathy ( 39 ).…”

Section: Imaging Presentations: Difference From Childhood Leukodystro...mentioning

confidence: 99%

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Muthusamy¹,

Sivadasan²,

Dixon³

et al. 2023

Front. Neurol.

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Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age. Misdiagnoses often occur due to the clinical and radiological overlap with common acquired disorders such as infectious, immune, inflammatory, vascular, metabolic, and toxic etiologies. Increased prevalence of non-specific white matter changes in adult population poses challenges during diagnostic considerations. Clinico-radiological spectrum and molecular landscape of adult-onset leukodystrophies have not been completely elucidated at this time. Diagnostic approach is less well-standardized when compared to the childhood counterpart. Absence of family history and reduced penetrance in certain disorders frequently create a dilemma. Comprehensive evaluation and molecular confirmation when available helps in prognostication, early initiation of treatment in certain disorders, enrollment in clinical trials, and provides valuable information for the family for reproductive counseling. In this review article, we aimed to formulate an approach to adult-onset leukodystrophies that will be useful in routine practice, discuss common adult-onset leukodystrophies with usual and unusual presentations, neuroimaging findings, recent advances in treatment, acquired mimics, and provide an algorithm for comprehensive clinical, radiological, and genetic evaluation that will facilitate early diagnosis and consider active treatment options when available. A high index of suspicion, awareness of the clinico-radiological presentations, and comprehensive genetic evaluation are paramount because treatment options are available for several disorders when diagnosed early in the disease course.

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“…75 Symptoms such as emotional lability, agitation, aggression, and irritability may emerge as initial clinical signs, and are sometimes present for years before demyelinating disease is detected. 76,77 These non-specific symptoms can be difficult to distinguish from primary psychiatric disorders such as bipolar disorder or schizophrenia. 77,78 As the disease progresses, psychiatric symptoms increase in severity.…”

Section: Onset Of Acaldmentioning

confidence: 99%

“…Psychiatric disturbance is a prominent concern among men with ACALD, with a review of 34 case reports revealing that psychiatric symptomatology was described in 56% of patients 75 . Symptoms such as emotional lability, agitation, aggression, and irritability may emerge as initial clinical signs, and are sometimes present for years before demyelinating disease is detected 76,77 . These non‐specific symptoms can be difficult to distinguish from primary psychiatric disorders such as bipolar disorder or schizophrenia 77,78 .…”

Section: Males With Aldmentioning

confidence: 99%

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

Pierpont

Isaia

McCoy

et al. 2022

J of Inher Metab Disea

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X-linked adrenoleukodystrophy (ALD) is a rare inherited neurological disorder that poses considerable challenges for clinical management throughout the lifespan. Although males are generally more severely affected than females, the time course and presentation of clinical symptoms are otherwise difficult to predict. Opportunities to improve outcomes for individuals with ALD are rapidly expanding due to the introduction of newborn screening programs for this condition and an evolving treatment landscape. The aim of this comprehensive review is to synthesize current knowledge regarding the neurocognitive and mental health effects of ALD. This review provides investigators and clinicians with context to improve case conceptualization, inform prognostic counseling, and optimize neuropsychological and mental health care for patients and their families. Results highlight key predictive factors and brainbehavior relationships associated with the diverse manifestations of ALD. The review also discusses considerations for endpoints within clinical trials and identifies gaps to address in future research.

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Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings

Cited by 6 publications

References 23 publications

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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

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